Short Stature in Children (cont.)

Medical Author:

Robert Ferry Jr., MD

Robert Ferry Jr., MD, is a U.S. board-certified Pediatric Endocrinologist. After taking his baccalaureate degree from Yale College, receiving his doctoral degree and residency training in pediatrics at University of Texas Health Science Center at San Antonio (UTHSCSA), he completed fellowship training in pediatric endocrinology at The Children's Hospital of Philadelphia.

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Medical Editor:

Melissa Conrad Stöppler, MD, Chief Medical Editor

Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

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Exams and Tests

The doctor or health-care practitioner will perform a complete history and physical examination, including measurements of the child's height, weight, limbs, and trunk. The doctor may perform blood tests to determine if the cause of short stature is related to a hormone deficiency or genetic disorder. Tests that may be performed include the following:

To screen for growth hormone deficiency, a blood test to check levels of insulin-like growth factor-1 (IGF-1) and IGF binding protein-3 (IGFBP-3)
To assess for blood diseases, a complete blood count
To exclude hypothyroidism, blood levels of total thyroxine (T₄) and thyroid-stimulating hormone (TSH)
To exclude Turner syndrome (a common cause of short stature in girls), a karyotype to detect chromosomal abnormalities
To exclude SHOX gene mutations, a simple blood test for DNA analysis